Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.E76K
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PHKA2

NM_000292.3:p.E76K

Associated Papers

Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.

Baronio F et al.

Hormones (athens, Greece), 2025

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."